Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.100 CausalMutation disease CLINVAR
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1
0.100 CausalMutation disease CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.100 CausalMutation disease CLINVAR